A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570334



Internal ID18351846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:108788690..108794538hg38UCSC Ensembl
Innerchr5:108124391..108130239hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg385849
hg195849
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9775813, essv9775801, essv9775810, essv9775807, essv9775799, essv9775805, essv9775806, essv9775812, essv9775809, essv9775814, essv9775815, essv9775803, essv9775802, essv9775804, essv9775808
Samples400520FM, 401064FR, 400030WD, 401733CG, 400075MR, 400291VJ, 400583HS, 401427CB, 401766MR, 401899MB, 400977SC, 401234MB, 400455SJ, 401087SF, 401729AC
Known GenesFER
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3570334
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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